Variant report

Variant	rs71533359
Chromosome Location	chr7:7241366-7241367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1008896	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10215143	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242378	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244392	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10252611	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253466	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10253709	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260052	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260457	1.00[ASN][1000 genomes]
rs10273490	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275169	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280795	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282249	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760845	0.92[ASN][1000 genomes]
rs11773799	0.92[ASN][1000 genomes]
rs11981957	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055926	0.80[EUR][1000 genomes]
rs13226799	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13228554	0.91[ASN][1000 genomes]
rs13234672	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242769	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13245879	0.82[ASN][1000 genomes]
rs17164679	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165258	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17165285	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28803004	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28883357	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34137418	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34287623	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34466774	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34534187	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35084224	0.83[ASN][1000 genomes]
rs35234968	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660747	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937955	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35949736	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56278796	0.91[ASN][1000 genomes]
rs61048998	0.88[ASN][1000 genomes]
rs6942455	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6945013	0.88[ASN][1000 genomes]
rs6951671	1.00[ASN][1000 genomes]
rs6977673	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533354	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533355	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71533362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71533363	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71533364	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
16	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7223400-7241400	Weak transcription	Pancreas	Pancrea
2	chr7:7223800-7279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:7225000-7243200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:7230200-7246600	Weak transcription	Osteobl	bone
5	chr7:7230400-7241800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:7231400-7248400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:7231600-7243000	Weak transcription	HSMM	muscle
8	chr7:7240000-7245000	Enhancers	Dnd41	blood
9	chr7:7240600-7242000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:7240800-7241400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:7240800-7241600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:7240800-7241600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:7240800-7241600	Enhancers	Lung	lung
14	chr7:7240800-7241800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:7240800-7241800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:7240800-7241800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:7240800-7242000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:7240800-7242000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:7240800-7242000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:7240800-7242000	Enhancers	Esophagus	oesophagus
21	chr7:7240800-7242000	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr7:7240800-7242000	Enhancers	Left Ventricle	heart
23	chr7:7240800-7242000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr7:7240800-7242200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:7240800-7242200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:7240800-7242200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:7240800-7242200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:7240800-7242200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:7240800-7242200	Genic enhancers	HepG2	liver
30	chr7:7240800-7242400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr7:7240800-7246400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:7241000-7241400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:7241000-7241400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:7241000-7241400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:7241000-7241600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:7241000-7241600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr7:7241000-7241600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:7241000-7241600	Enhancers	Right Atrium	heart
39	chr7:7241000-7241600	Enhancers	Spleen	Spleen
40	chr7:7241000-7241600	Flanking Active TSS	NHEK	skin
41	chr7:7241000-7241800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr7:7241000-7241800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:7241000-7241800	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr7:7241000-7241800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr7:7241000-7241800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr7:7241000-7241800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr7:7241000-7241800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:7241000-7241800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:7241000-7241800	Enhancers	Placenta	Placenta
50	chr7:7241000-7241800	Enhancers	Skeletal Muscle Female	skeletal muscle

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